Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.Q455fs
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LDLR

NM_000527.5:p.Q455fs

Associated Papers

The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia.

Jiang L et al.

Scientific Reports, 2016

Characterization of the unique Chinese W483X mutation in the low-density lipoprotein-receptor gene in young patients with homozygous familial hypercholesterolemia.

Jiang L et al.

Journal of Clinical Lipidology, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."